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Biomedical subjects

D Garcia-Cruz

Publications and source records attributed to D Garcia-Cruz.

16 recordsLinked to original sources
PubMed2002

Inherited hypertrichoses.

Hypertrichosis is a rare condition characterized by excessive growth of hair (terminal, vellus or lanugo) in areas of the body that are not predominantly androgen dependent, and it is independent of age, race or sex. It can be congenital, late-onset, generalized, localized, inherited or acquired. More than 50 different OMIM entries related to hypertrichosis exist, few of them with a localized gene locus or with a candidate gene. The review of generalized hypertrichoses from a historical point of view, including a review of their clinical and genetic features, shows heterogeneity with at least nine different entities. A short analysis of other forms of hypertrichosis is presented.

Genetic Diseases, Inborn↗
PubMed1997

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome.

The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome.

Abnormalities, Multiple↗
PubMed1995

Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?

Typical isolated ocular coloboma is a congenital abnormality caused by a defective closure of the embryonic fissure of the optic cup. Although an irregular autosomal dominant mechanism of inheritance has been proposed, there is some evidence of other modes of transmission and etiologies. This report shows an unexpected recurrence of iris coloboma, occurring in three sibships of the same family, that could be explained by a "delayed mutation" or "premutation" mechanism.

Child↗
PubMed1994

Osteopoikilosis: report of a familial case.

We describe four members of a family in which the clinical and radiological findings lead to consider the diagnosis of osteopoikilosis. The symptoms in all affected members were only those referred to as typical radiological features; these features became more extensive with older age. None of the subjects showed the skin lesions reported in the Buschke-Ollendorff syndrome. The importance of a suitable differential diagnosis is emphasized in order to avoid dangerous and unnecessary treatments.

Adult↗
PubMed1994

The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.

The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.

Abnormalities, Multiple↗
PubMed1990

Tandem duplication of proximal 5q.

A 3.5-year-old boy with a de novo tandem duplication 5q11.1----5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11----q13.

Child, Preschool↗
PubMed1988

A further 46,XYp- female.

A 24-year-old female with a Swyer syndrome phenotype was found to have a 46,X,del (Y) (p11) karyotype. This observation is consistent with the recently confirmed assignment of the testis-determining master gene to the deletion interval 1A of the Y (Page et al., 1987). Otherwise, it illustrates the etiological heterogeneity of the Swyer phenotype and allows to emphasize the de novo origin of XYp-females.

Chromosome Deletion↗
PubMed1987

inv(5)(p13q13) in a four generation pedigree.

A 4 1/2 years old boy was found to have hypoplasia of the pectoralis major right muscle and a karyotype 46,XY,inv(5)(p13q13)mat. This inversion, probably independent of the boy's malformation, was present in at least four generations and it seems neither to impair fertility nor to yield viable recombinants.

Child, Preschool↗
PubMed1982

Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

A girl aged 13 years and 9 months with a phenotypic appearance of 9p trisomy was studied. Chromosome analysis of peripheral blood lymphocytes revealed a 9p tetrasomy [47,XX,+i(9p)] with no evidence of mosaicism. Biochemical studies corroborate the gene dosage effect for galactose-1-phosphate uridyltransferase. The roentgenological findings were quite similar to those of the 9p trisomy except for hypoplastic and angulated ribs, and malformed vertebral bodies, which are probably exclusive of the tetrasomic state.

Adolescent↗
PubMed1982

Abnormal hemoglobins in Northwestern Mexico.

Blood samples from 9,929 individuals in Northwestern Mexico were assayed for abnormal hemoglobins (Hbs). alpha-thal, beta-thal, beta s and beta c traits, as well as rare abnormal Hbs were observed with variable low frequencies (0 to 0.45%). Eight out of eleven rare abnormal Hbs detected so far have been characterized: Three Hb Riyadh, one Hb J Georgia, one Hb Fannin-Lubbock, one Hb Chiapas and two Hb Tarrant. These results suggest that abnormal Hbs do not constitute a regional public health problem and reflect a wide ethnologic heterogeneity.

Female↗
PubMed1981

A simple screening procedure for glucose phosphate isomerase, phosphofructokinase, aldolase and glyceraldehyde-3-phosphate dehydrogenase deficiencies.

A simple screening procedure for the detection of glucose-phosphate isomerase (GPI), phosphofructokinase (PFK), aldolase (AL) and glyceraldehyde-3-phosphate dehydrogenase (GAPD) deficiencies in blood, is described. These enzymes catalyze the second, third, fourth, and sixth reactions in the Embden-Meyerhof pathway. The procedure is based on the conversion of glucose-6-phosphate to 1,3-diphosphoglycerate (1,3-DPG) which is catalyzed by the sequential action of the GPI, PFK, AL and GAPD. The presence of the enzyme activities is visually estimated by the reduction of NAD+ (non-fluorescent) to NADH (fluorescent) which occurs when 1,3-DPG is formed. Absence of fluorescence indicates the deficiency of anyone of the four enzymes, which are specified by using separately the PFK, AL and GAPD respective substrates.

Anemia, Hemolytic, Congenital↗
PubMed1981

A screening test for phosphoglycerate kinase deficiency.

A simple screening test for the detection of X-linked recessive phosphoglycerate kinase (PGK) deficiency in blood is described. It is based on the conversion of 3-phosphoglycerate to 1,3-diphosphoglycerate catalyzed by the PGK whose activity is visually estimated by the oxidation of NADH (fluorescent) to NAD+ (non-fluorescent) in a coupled reaction with the enzyme glyceraldehyde 3-phosphate dehydrogenase. The disappearance of fluorescence indicates PGK activity in the sample, while the contrary could be due to PGK deficiency. The utility of this test for the study of males with hereditary hemolytic anemia is stressed.

Fluorescence↗
PubMed1979

Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34).

A girl of 9-10/12 years of age with 46,XX,r(13)(p11q34) karyotypes was studied. She presented some clinical and radiological features, such as pectus excavatum, scalp alopecic area, 12th rib agenesis, hypoplastic pelvis, small gluteal pits and hypoplasia of the external genitalia in a female, which have never been previously described in other cases with ring 13 chromosomes. Cytogenetically, in vivo and in vitro viability of complete monosomic and partially trisomic and tetrasomic cells was found. The presence of nucleolus organizer regions and association of the ring 13 with other acrocentrics question the exclusivity of these attributes to acrocentrics p12.

Abnormalities, Multiple↗